Variant report

Variant	rs12976741
Chromosome Location	chr19:18767477-18767478
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:18699905..18701493-chr19:18765580..18768178,2	K562	blood:
2	chr19:18767345..18768985-chr19:18792742..18794302,2	K562	blood:
3	chr19:18759439..18761865-chr19:18767134..18771094,4	K562	blood:
4	chr19:18757758..18761197-chr19:18765478..18769110,5	MCF-7	breast:
5	chr19:18763880..18765742-chr19:18767245..18768815,2	K562	blood:

Variant related genes	Relation type
ENSG00000006015	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10402536	0.89[ASN][1000 genomes]
rs10403231	0.97[ASN][1000 genomes]
rs10423102	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10423271	0.90[ASN][1000 genomes]
rs10423676	0.94[ASN][1000 genomes]
rs10423852	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11085237	0.88[ASN][1000 genomes]
rs11085239	0.97[ASN][1000 genomes]
rs11668617	0.84[ASN][1000 genomes]
rs12052075	0.90[ASN][1000 genomes]
rs12610845	0.95[ASN][1000 genomes]
rs12974161	0.94[ASN][1000 genomes]
rs12974777	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12980154	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12983476	0.94[ASN][1000 genomes]
rs1473115	0.95[ASN][1000 genomes]
rs2014914	0.90[ASN][1000 genomes]
rs34143665	0.97[ASN][1000 genomes]
rs34190814	0.93[ASN][1000 genomes]
rs4808146	0.94[ASN][1000 genomes]
rs4808841	0.88[ASN][1000 genomes]
rs4808842	0.86[ASN][1000 genomes]
rs71332133	0.93[ASN][1000 genomes]
rs889362	0.88[ASN][1000 genomes]
rs889363	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv532615	chr19:18534867-18796031	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv911282	chr19:18624964-18928480	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv833776	chr19:18638028-18782264	Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv911286	chr19:18652844-18811112	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv911289	chr19:18700047-18811112	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	esv1849639	chr19:18747006-18780799	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv578772	chr19:18764218-18768955	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv1811733	chr19:18764320-18780799	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	esv1845237	chr19:18764320-18780799	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18748600-18774400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr19:18749200-18768200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr19:18749200-18778400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr19:18749400-18774000	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr19:18756400-18778400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr19:18759400-18776200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr19:18759800-18778400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr19:18760000-18770000	Weak transcription	Gastric	stomach
9	chr19:18760000-18770000	Weak transcription	Stomach Mucosa	stomach
10	chr19:18760200-18775000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr19:18760400-18774000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr19:18760400-18794800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr19:18760600-18774800	Weak transcription	Thymus	Thymus
14	chr19:18760800-18776200	Weak transcription	Liver	Liver
15	chr19:18760800-18778400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr19:18761000-18767800	Weak transcription	GM12878-XiMat	blood
17	chr19:18761200-18768000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr19:18761200-18768000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr19:18761200-18769600	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr19:18761600-18769600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr19:18761800-18768000	Weak transcription	Fetal Intestine Large	intestine
22	chr19:18762000-18768600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr19:18762000-18770200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr19:18762200-18767800	Weak transcription	Brain Germinal Matrix	brain
25	chr19:18762200-18771200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr19:18762400-18768400	Weak transcription	Colonic Mucosa	Colon
27	chr19:18762600-18767800	Weak transcription	Brain Angular Gyrus	brain
28	chr19:18762600-18767800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr19:18762600-18768000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr19:18762600-18768200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr19:18762600-18774600	Weak transcription	Primary T cells from cord blood	blood
32	chr19:18762600-18775600	Weak transcription	Dnd41	blood
33	chr19:18762800-18767600	Weak transcription	HSMMtube	muscle
34	chr19:18762800-18767800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr19:18762800-18768000	Weak transcription	Colon Smooth Muscle	Colon
36	chr19:18762800-18770600	Weak transcription	Psoas Muscle	Psoas
37	chr19:18763000-18767800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr19:18763000-18767800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr19:18763000-18767800	Weak transcription	HSMM	muscle
40	chr19:18763000-18767800	Weak transcription	NHLF	lung
41	chr19:18763000-18767800	Weak transcription	Osteobl	bone
42	chr19:18763000-18768000	Weak transcription	NHDF-Ad	bronchial
43	chr19:18763000-18768200	Weak transcription	Esophagus	oesophagus
44	chr19:18763000-18768200	Weak transcription	Placenta	Placenta
45	chr19:18763000-18768400	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr19:18763000-18768400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr19:18763000-18769200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr19:18763000-18778400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr19:18763200-18768000	Weak transcription	HMEC	breast
50	chr19:18763600-18768200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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